Variant report

Variant	rs73265172
Chromosome Location	chr8:62505464-62505465
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16927603	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16927637	0.84[AFR][1000 genomes]
rs4501572	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73265168	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73265184	0.89[AFR][1000 genomes]
rs73265190	0.87[AFR][1000 genomes]
rs7836743	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1029046	chr8:62224341-62535277	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv1032489	chr8:62450784-62555994	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv539635	chr8:62450784-62555994	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62411000-62505800	Weak transcription	Brain Angular Gyrus	brain
2	chr8:62466800-62508600	Weak transcription	Pancreas	Pancrea
3	chr8:62468600-62549000	Weak transcription	Right Ventricle	heart
4	chr8:62489000-62508200	Weak transcription	Left Ventricle	heart
5	chr8:62489200-62505800	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:62489200-62528800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:62493000-62508400	Weak transcription	Lung	lung
8	chr8:62493000-62508400	Weak transcription	Spleen	Spleen
9	chr8:62493200-62508200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:62493200-62512400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:62493800-62505600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:62494200-62505600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:62494200-62505600	Weak transcription	Fetal Brain Female	brain
14	chr8:62494200-62505600	Weak transcription	HepG2	liver
15	chr8:62494200-62505800	Weak transcription	Brain Germinal Matrix	brain
16	chr8:62494200-62508400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:62494200-62508600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr8:62494200-62511600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:62494200-62511800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:62494200-62512400	Weak transcription	Brain Anterior Caudate	brain
21	chr8:62494200-62519400	Weak transcription	Esophagus	oesophagus
22	chr8:62494200-62520400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:62494200-62521400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr8:62494800-62508200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:62495400-62529000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr8:62495600-62508400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr8:62495600-62525800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr8:62496800-62508200	Weak transcription	Placenta	Placenta
29	chr8:62497000-62508800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:62498400-62508600	Weak transcription	Gastric	stomach
31	chr8:62498400-62521200	Weak transcription	Ovary	ovary
32	chr8:62499200-62519400	Weak transcription	Liver	Liver
33	chr8:62503000-62509400	Enhancers	NHDF-Ad	bronchial
34	chr8:62503000-62521200	Weak transcription	Aorta	Aorta
35	chr8:62503200-62508800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:62503400-62509000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr8:62503600-62505600	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr8:62503800-62506400	Enhancers	A549	lung
39	chr8:62504000-62506200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr8:62504000-62506800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:62504200-62505800	Enhancers	Fetal Muscle Leg	muscle
42	chr8:62504200-62508000	Weak transcription	HSMM	muscle
43	chr8:62504400-62505600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr8:62504400-62506200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr8:62504400-62508400	Weak transcription	Fetal Intestine Small	intestine
46	chr8:62504400-62508400	Weak transcription	Fetal Stomach	stomach
47	chr8:62504600-62505600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:62504600-62505600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr8:62504600-62505800	Weak transcription	Osteobl	bone
50	chr8:62504600-62507200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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